Defective synthesis of hemoglobin gives rise to a group of hereditary disorders. If the defect arises from a genetic mutation producing abnormal protein chains, the condition is classified as hemoglobin variant. Whereas, if the structure is normal but the synthesis is reduced, they are denominated as thalassaemia. This article aims to describe the laboratory diagnostic approach in four cases of hemoglobin disorders in order to illustrate the role of laboratories and discuss the role of clinical pathologists as a link between physicians and laboratories in diagnostic clarification.
Hemoglobin; Hemoglobin variant; Hemoglobinopathy; Thalassaemia; Laboratory methods; Clinical pathology
